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Research for the end of Autism Action Month

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In honor of the last week of Autism Awareness/Acceptance Month, we review two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38630491/

https://www.nature.com/articles/s41586-024-07310-6

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Top reasons to study the autistic brain

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There are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the brain works. A third is improve medicine by determining what helps what people at what age. Scientists @UCDavis, @Penn and @UCLA examined the individual brain cells of people with autism to address these three questions, revealing that the autistic brain shows some similarities to brains of people with Alzheimer’s Disease. In addition, inflammation seen in the brain may be caused by too much activity of cells talking to each other. Studying the brains of people with autism is essential to better understanding and is made possible by families who are committed to research. www.autismbrainnet.org.

https://pubmed.ncbi.nlm.nih.gov/36862688/

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Happy Pride 2023

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With just a few weeks to go until June, this week’s podcast is a short summary of the prevalence of transsexuality in the autism community and how many people are autistic in the trans community. More importantly, there are guidelines about the identification and care for those who have these co-occurring conditions. The references mentioned are below:

https://pubmed.ncbi.nlm.nih.gov/36996732/

https://pubmed.ncbi.nlm.nih.gov/36721890/

https://pubmed.ncbi.nlm.nih.gov/36358354/

https://www.tandfonline.com/doi/full/10.1080/15374416.2016.1228462

https://4w.pub/autism-puberty-gender-dysphoria-view-from-an-autistic-desisted-woman/amp/

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The molecular signature of the autism brain

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Is there a specific “signature’ that make the autism brain unique? Can there be a common set of findings that certain gene expression goes up and another go down and where? And is it linked to behavior? This week, Dr. Michael Gandal at University of Pennsylvania (formerly UCLA) explains his recent findings that looks at the largest number of brain tissue samples so far from multiple brain regions to show a common up regulation of immune genes in the brain and a common down regulation of genes which control synapse formation and neuronal communication. It is most pronounced in areas involved in sensory processing of the brain. You can listen to the podcast today and read the whole paper here:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668748/pdf/41586_2022_Article_5377.pdf

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The Meaning of Microglia

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We normally focus on the function of brain cells that send signals to eachother and communicate across small or long distances, which show differences in ASD. However, we rarely pay attention to the other cells in the brain. One type of cell, called the microglia, has been shown to not only help “pick up the garbage” of the brain, but also shape these connections that occur between brain cells. This week @DavidMenassa1 from @QueensCollegeOx, @UniofOxford, @unisouthampton published a paper in @Dev_Cell that looks at how microglia shape the brain during critical periods of development, and what this means for ASD. We are grateful he shares his expertise (and a beautiful accent) with us this week.

Check out the paper HERE:

https://www.cell.com/developmental-cell/fulltext/S1534-5807(22)00546-9?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1534580722005469%3Fshowall%3Dtrue 

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Is anxiety related to autism, and where is it in the brain?

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Anxiety is common in people with autism – but is is different than other types of anxiety or similar? Is it part of the autism phenotype? When does it start and what triggers it? Two new studies which use a longitudinal design and examine the links between autism features, anxiety symptoms and brain development are summarized this week. It shows that the amygdala is important, that some features of anxiety are core to ASD and some are separate, and it is related to autism features like insistence on sameness. This has implications for how anxiety is diagnosed and treated in those with ASD.

https://pubmed.ncbi.nlm.nih.gov/35871413/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9116934/?report=printable

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How that little amygdala makes a big difference in autism

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The amygdala has been shown to be differently sized in autistic people – at first it is too big then it becomes smaller than typically developing people. But how early are these differences seen and does it relate to a diagnosis? The Infant Brain Imaging Study tackled this question in a recent study which compared those who were likely to develop autism at 6 months to those with Fragile X to see if there were differences and if it was specific to autism. Their findings will surprise you and have implications for targeted supports and interventions.

https://pubmed.ncbi.nlm.nih.gov/35331012/

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Environmental factors as both causes and interventions?

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Environmental exposures, including toxic chemicals, can contribute to the causes of ASD. But how do other environmental factors, like behavioral supports, work in the brain to improve behaviors associated with ASD? For this, you need a broad interpretation of the term “environmental” and an animal model so you can see the mechanism involved. Studies show while environmental factors can contribute, they can also provide modifications in cellular and molecular function which support learning and improved developmental trajectory. Finally, on a different topic, are autistic adults more likely to be involved in a crime compared to other groups? No, they are not, but there are factors which affect the risk of being involved with the criminal justice system, at least in the UK. Read more in the studies below.

https://pubmed.ncbi.nlm.nih.gov/34972219/

https://pubmed.ncbi.nlm.nih.gov/35259351/

https://pubmed.ncbi.nlm.nih.gov/35261275/

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Is Autism Inflammation Nation?

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Several studies have linked the immune system to autism, but how are they connected? Two new studies this week illustrate differences in immune function in those with a diagnosis compared to those without, and also find differences in the blood of of pregnant mothers who go on to have an autistic child. Women who go on to have autistic girls show higher levels and more inflammatory markers than mothers who go on to have boys, the finding of elevated IL1 is now a finding that has been replicated across countries. However, it’s too early to tell if this information can be used to help with a diagnosis and it’s probably not specific to autism. But the message is the same as it was before: getting sick during pregnancy is not great. Get vaccinated! Stay away from sick people and wash your hands.

https://pubmed.ncbi.nlm.nih.gov/35110990/

https://pubmed.ncbi.nlm.nih.gov/34987169/

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Four problems and a solution: Is there a way to solve the heterogeneity problem in research?

While a diagnosis of autism spectrum disorder may encompass many strengths, challenges, features and conditions, it is becoming increasingly difficult for researchers to figure out what is autism, and how to help those on the full spectrum. This week’s ASF podcast summarizes the challenges and a possible solution to grouping people according to their behavioral features. However, not everyone agrees with this approach. What do you think? How can researchers best help people across the spectrum recognizing the unique needs of those with different symptoms? Share your thoughts in the comments.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2494

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2529

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2547